CPOX-related hereditary coproporphyria
Go to external page http://purl.obolibrary.org/obo/MONDO_0800180
Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene. [ https://clinicalgenome.org/affiliation/40097/ https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/ ]
Synonyms: CPOX-related hereditary coproporphyria
Term information
rare, inferred_rare, clingen
Per criteria outlined by the ClinGen Lumping and Splitting Working Group, the molecular mechanism (CPOX loss-of-function) was found to be consistent between the harderoporphyria cases and hereditary coproporphyria cases. In addition, the phenotypic differences between the biallelic and monoallelic cases appeared to represent a single spectrum of disease. Therefore, cases caused by inherited CPOX variants have been lumped into a single disease entity referred to as CPOX-related hereditary coproporphyria, with a semidominant mode of inheritance.